A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14603367



Internal ID4605183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106945976..106951141hg38UCSC Ensembl
Innerchr12:106946476..106950641hg38UCSC Ensembl
Outerchr12:106944976..106952141hg38UCSC Ensembl
chr12:107339754..107344919hg19UCSC Ensembl
Innerchr12:107340254..107344419hg19UCSC Ensembl
Outerchr12:107338754..107345919hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385166
hg195166
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630686
Supporting Variants
SamplesHG03259
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14603367
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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